1. Gene
  2. SKOR1 - SKI family transcriptional corepressor 1 Gene

SKOR1 - SKI family transcriptional corepressor 1 Gene

Homo sapiens

Also known as CORL1; LBXCOR1; FUSSEL15

Gene ID: 390598 | Gene type: protein coding

About SKOR1

Cytogenetic location: 15q23 Genomic coordinates (GRCh38): 15:67,825,509-67,834,582 (from NCBI)

This gene has 4 transcripts (splice variants), 246 orthologues and 3 paralogues. Low expression observed in reference dataset.

Summary

Enables SMAD binding activity and sequence-specific double-stranded DNA binding activity. Involved in negative regulation of BMP signaling pathway. Located in dendrite and neuronal cell body. [provided by Alliance of Genome Resources, Apr 2022]

SKOR1 Products(1)

mRNA Protein Name
NM_001365915.1 NP_001352844.1 SKI family transcriptional corepressor 1

SKOR1 Protein Structure

Ski_Sno

Ski_Sno: SKI/SNO/DAC family (57 - 168)

c-SKI_SMAD_bind

c-SKI_SMAD_bind: c-SKI Smad4 binding domain (180 - 272)

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  • 965 a.a.
Protein Preferred Names Protein Names

SKI family transcriptional corepressor 1

LBX1 corepressor 1

Related Diseases

Diseases Alias
Restless Legs Syndrome

Wed

Willis-Ekbom Disease

Restless Leg Syndrome

Ekbom Syndrome

Wittmaack-Ekbom Syndrome

Willis Ekbom Disease

Ekbom'S Syndrome

Rls

Restless Legs

Restless Legs Syndrome, Susceptibility To

Periodic Limb Movement Disorder

Nocturnal Myoclonus Syndrome

Nocturnal Myoclonus

Osgood-Schlatter'S Disease

Osgood-Schlatter Disease

Juvenile Osteochondrosis Of Tibial Tubercle

Osteochondrosis

Osteochondritis Of Tibial Tubercle

Osteochondrosis Of Proximal Tibia

Aseptic Necrosis Of The Tibial Tubercle

Osteochondrosis Of The Tibial Tubercle

Osteochondritis Juvenilis

Essential Tremor

Benign Essential Tremor

Familial Tremor

Hereditary Essential Tremor

Essential Hereditary Tremor

Shaky Hand Syndrome

Benign Essential Tremor Syndrome

Tremor Hereditary Essential

Essential Tremor, Susceptibility To

Tremor, Hereditary Essential

Pulmonary Subvalvular Stenosis

Pulmonary Infundibular Stenosis

Congenital Infundibular Stenosis

Infundibular Pulmonic Stenosis

Infundibular Pulmonic Stenosis, Congenital

Subvalvular Pulmonic Stenosis

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus SKOR1 VGNC VGNC:55143
Rattus norvegicus SKOR1 RGD RGD:1307687
Felis catus SKOR1 VGNC VGNC:104718
Mus musculus SKOR1 MGD MGI:2443473
Macaca mulatta SKOR1 VGNC VGNC:77544